Impedance-based sensor for potassium ions
Day, C., Søpstad, S., Ma, H., Jiang, C., Nathan, A., Elliott, S.R., Karet Frankl, F.E., Hutter, T.
Published in Analytica chimica acta (30.11.2018)
Published in Analytica chimica acta (30.11.2018)
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Journal Article
Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism
Semple, R. K, Achermann, J. C, Ellery, J, Farooqi, I. S, Karet, F. E, Stanhope, R. G, O’Rahilly, S, Aparicio, S. A
Published in The journal of clinical endocrinology and metabolism (01.03.2005)
Published in The journal of clinical endocrinology and metabolism (01.03.2005)
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Journal Article
High water vs. ad libitum water intake for autosomal dominant polycystic kidney disease: a randomized controlled feasibility trial
El-Damanawi, R, Lee, M, Harris, T, Cowley, L B, Bond, S, Pavey, H, Sandford, R N, Wilkinson, I B, Karet Frankl, F E, Hiemstra, T F
Published in QJM : An International Journal of Medicine (01.04.2020)
Published in QJM : An International Journal of Medicine (01.04.2020)
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Journal Article
Urinary extracellular vesicles as a source of protein‐based biomarkers in feline chronic kidney disease and hypertension
Lawson, J. S., Syme, H. M., Antrobus, P. R., Karttunen, J. M., Stewart, S. E., Karet Frankl, F. E., Williams, T. L.
Published in Journal of small animal practice (01.01.2023)
Published in Journal of small animal practice (01.01.2023)
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Journal Article
Mutations in the Chloride-Bicarbonate Exchanger Gene AE1 Cause Autosomal Dominant but not Autosomal Recessive Distal Renal Tubular Acidosis
Karet, F. E., Gainza, F. J., Gyory, A. Z., Unwin, R. J., Wrong, O., Tanner, M. J. A., Nayir, A., Alpay, H., Santos, F., Hulton, S. A., Bakkaloglu, A., Ozen, S., Cunningham, M. J., Di Pietro, A., Walker, W. G., Lifton, R. P.
Published in Proceedings of the National Academy of Sciences - PNAS (26.05.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (26.05.1998)
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Journal Article
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis
Borthwick, K J, Kandemir, N, Topaloglu, R, Kornak, U, Bakkaloglu, A, Yordam, N, Ozen, S, Mocan, H, Shah, G N, Sly, W S, Karet, F E
Published in Journal of medical genetics (01.02.2003)
Published in Journal of medical genetics (01.02.2003)
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Journal Article
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
Stover, E H, Borthwick, K J, Bavalia, C, Eady, N, Fritz, D M, Rungroj, N, Giersch, A B S, Morton, C C, Axon, P R, Akil, I, Al-Sabban, E A, Baguley, D M, Bianca, S, Bakkaloglu, A, Bircan, Z, Chauveau, D, Clermont, M-J, Guala, A, Hulton, S A, Kroes, H, Li Volti, G, Mir, S, Mocan, H, Nayir, A, Ozen, S, Rodriguez Soriano, J, Sanjad, S A, Tasic, V, Taylor, C M, Topaloglu, R, Smith, A N, Karet, F E
Published in Journal of medical genetics (01.11.2002)
Published in Journal of medical genetics (01.11.2002)
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Journal Article
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK
SIMON, D. B, KARET, F. E, RODRIGUEZ-SORIANO, J, HAMDAN, J. H, DIPIETRO, A, TRACHTMAN, H, SANJAD, S. A, LIFTON, R. P
Published in Nature genetics (01.10.1996)
Published in Nature genetics (01.10.1996)
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Journal Article
Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness
Lifton, Richard P, Karet, Fiona E, Finberg, Karin E, Nelson, Raoul D, Nayir, Ahmet, Mocan, Hilal, Sanjad, Sami A, Rodriguez-Soriano, Juan, Santos, Fernando, Cremers, Cor W.R.J, Pietro, Antonio Di, Hoffbrand, Barry I, Winiarski, Jacek, Bakkaloglu, Aysin, Ozen, Seza, Dusunsel, Ruhan, Goodyer, Paul, Hulton, Sally A, Wu, Doris K, Skvorak, Anne B, Morton, Cynthia C, Cunningham, Michael J, Jha, Vivekanand
Published in Nature genetics (01.01.1999)
Published in Nature genetics (01.01.1999)
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Journal Article
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
SIMON, D. B, NELSON-WILLIAMS, C, GAINZA, F. J, GITELMAN, H. J, LIFTON, R. P, BIA, M. J, ELLISON, D, KARET, F. E, MOLINA, A. M, VAARA, I, IWATA, F, CUSHNER, H. M, KOOLEN, M
Published in Nature genetics (1996)
Published in Nature genetics (1996)
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Journal Article
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet, Fiona E., Finberg, Karin E., Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A., Sanjad, Sami A., Al-Sabban, Essam A., Medina, Juan F., Lifton, Richard P.
Published in American journal of human genetics (01.12.1999)
Published in American journal of human genetics (01.12.1999)
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Journal Article
High water vs. ad libitum water intake for autosomal dominant polycystic kidney disease: a randomized controlled feasibility trial
El-Damanawi, R, Lee, M, Harris, T, Cowley, L B, Bond, S, Pavey, H, Sandford, R N, Wilkinson, I B, Karet Frankl, F E, Hiemstra, T F
Published in QJM : An International Journal of Medicine (01.04.2020)
Published in QJM : An International Journal of Medicine (01.04.2020)
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Journal Article
An endothelin-1 mediated autocrine growth loop involved in human renal tubular regeneration
Ong, Albert C.M., Jowett, Terence P., Firth, John D., Burton, Stephen, Karet, Fiona E., Fine, Leon G.
Published in Kidney international (01.08.1995)
Published in Kidney international (01.08.1995)
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Journal Article
Conference Proceeding
Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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Journal Article
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
Simon, D B, Karet, F E, Hamdan, J M, DiPietro, A, Sanjad, S A, Lifton, R P
Published in Nature genetics (01.06.1996)
Published in Nature genetics (01.06.1996)
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Journal Article
Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
Karet, Fiona E, Smith, Annabel N, Skaug, Jennifer, Choate, Keith A, Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A, Sanjad, Sami A, Al-Sabban, Essam A, Lifton, Richard P, Scherer, Stephen W
Published in Nature genetics (01.09.2000)
Published in Nature genetics (01.09.2000)
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